Clinico-genetic correlation in 102 Spinocerebellar Ataxia Type 12 (SCA 12) patients
Objective: To report the phenotype among the largest number of genotypically confirmed SCA 12 patients. Background: SCA12 is an autosomal dominant cerebellar ataxia (ADCA) caused…Abnormal Gait in Cerebrotendenious Xanthomatosis a case report
Objective: To identify patients with Cererotendenious xanthomatosis. To present the neurological spectrum of the disease. Background: Cerebrotendenious xanthomatosis is a rare lipid storage disease due…Muscle Ultrasound Comparison between Early, Intermediate and Late Onset Friedreich’s Ataxia
Objective: To elucidate discriminative muscle ultrasound features in Friedreich's ataxia (FA) between pediatric (p-FA), intermediate (i-FA) and very late onset (VLOFA) subgroups. Background: Friedreich’s Ataxia…Huntington’s Disease presenting as sporadic cerebellar ataxia
Objective: To describe a unique case of a woman who presented as a progressive cerebellar ataxia, with no family history of neurological diseases, that after…Alignment of objective markers of speech with listener based judgements and disease severity in Friedreich ataxia
Objective: To identify a subset of acoustic markers of speech that objectively describe listener perceptions, disease severity and speech related quality of life in Friedreich…Study of eye movements as a tool in the diagnosis hereditary ataxias
Objective: To study ocular movements (ocular pursuit, nystagmus and saccades) in the most frequent ataxias (SCA2, SCA3 and Friedreich's ataxia), to find out which variables…Research on the modifier gene of Hereditary spinocerebellar ataxia type 2
Objective: To investigate the influence of CAG trinucleotides repeat of some (CAG)n-containing gene and some gene polymorphisms in AO of SCA2, and analyse the difference…Onset symptoms and time to diagnosis in Friedreich´s Ataxia
Objective: In the present study, we aimed at analyzing onset symptoms in Friedreich Ataxia on the basis of natural history data from the EFACTS registry…Inpatient vs outpatient workup of patients with ataxia and suspected paraneoplastic cerebellar degeneration: Does work-up location matter?
Objective: To assess the outcomes of patients with ataxia evaluated for paraneoplastic syndrome primarily in an outpatient or inpatient setting. Background: Although paraneoplastic ataxias are…Opsoclonus-myoclonus-ataxia syndrome associated to rubella
Objective: Reporting exceptional etiology of OMS and remembering spectrum of neurological manifestations of rubella. Background: Opsoclonus-myoclonus-ataxia (OMS) is a rare child clinical paraneoplastic syndrome. OMS…
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